ClinVar Miner

Submissions for variant NM_015001.3(SPEN):c.6974_6975del (p.Leu2325fs)

dbSNP: rs2071239657
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001267321 SCV001445502 pathogenic Inborn genetic diseases 2021-10-26 criteria provided, single submitter clinical testing The c.6974_6975delTT (p.L2325Rfs*33) alteration, located in coding exon 11 of the SPEN gene, consists of a deletion of 2 nucleotides from position 6974 to 6975, causing a translational frameshift with a predicted alternate stop codon after 33 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This alteration was reported de novo in a patient with global developmental delay, moderate intellectual disability, behavioral issues, hypotonia, dysmorphic features, gastrointestinal features, feeding/swallowing problems, and hearing loss (Radio, 2021). Based on the available evidence, this alteration is classified as pathogenic.
Tartaglia Lab, Genetics and Rare Diseases Research Division, Bambino Gesu' Children's Hospital RCV001530945 SCV001468537 pathogenic not provided 2020-12-03 criteria provided, single submitter research
OMIM RCV001391189 SCV001593175 pathogenic Radio-Tartaglia syndrome 2021-05-10 no assertion criteria provided literature only

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